Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.E700*
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RP1

NM_006269.2:p.E700*

Associated Papers

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Liang Y et al.

Stem Cell Research & Therapy, 2023

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.

Wang J et al.

Frontiers in Cell and Developmental Biology, 2021

33681214 (PubMed )
Supplement: Table_4.XLSX › Sheet1

Generation of an induced pluripotent stem cell line from a patient with retinitis pigmentosa caused by RP1 mutation.

Zhang X et al.

Stem Cell Research, 2019

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.

Audo I et al.

Human Mutation, 2012

Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.

Chen LJ et al.

Investigative Ophthalmology & Visual Science, 2010

Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa.

Bowne SJ et al.

Human Molecular Genetics, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."